Sclerosing epithelioid fibrosarcoma associated with WRN gene variant presenting as chronic dyspnea and pathologic cervical fracture: a case report and review of the literature.

BACKGROUND: Sclerosing epithelioid fibrosarcoma is an aggressive sarcoma subtype with poor prognosis and limited response to conventional chemotherapy regimens. Diagnosis can be difficult owing to its variable presentation, and cases of sclerosing epithelioid fibrosarcoma are rare. Sclerosing epithelioid fibrosarcoma typically affects middle-aged individuals, with studies inconsistently citing gender predominance. Sclerosing epithelioid fibrosarcoma typically arises from the bones and soft tissues and often has local recurrence after resection and late metastases. Immunohistochemical staining typically is positive for mucin-4. Werner syndrome is due to an autosomal recessive mutation in the WRN gene and predisposes patients to malignancy. CASE PRESENTATION: A 37-year-old Caucasian female presented to the emergency department with 4 months of dyspnea and back pain. She had been treated for pneumonia but had persistent symptoms. A chest, abdomen, and pelvis computed tomography showed near-complete right upper lobe collapse and consolidation, mediastinal lymphadenopathy, lytic spinal lesions, and a single 15-mm hypodense liver nodule. The patient underwent a transthoracic right upper lobe biopsy, bronchoscopy, endobronchial ultrasound with transbronchial lymph node sampling, and bronchoalveolar lavage of the right upper lobe. The bronchoalveolar lavage cytology was positive for malignant cells compatible with poorly differentiated non-small cell carcinoma; however, the cell block materials were insufficient to run immunostains for further investigation of the bronchoalveolar lavage results. Consequently, the patient also underwent a liver biopsy of the liver nodule, which later confirmed a diagnosis of sclerosing epithelioid fibrosarcoma. Next-generation sequencing revealed a variant of unknown significance in the WRN gene. She was subsequently started on doxorubicin. CONCLUSION: Sclerosing epithelioid fibrosarcoma is a very rare entity, only cited approximately 100 times in literature to date. Physicians should be aware of this disease entity and consider it in their differential diagnosis. Though pulmonary involvement has been described in the context of sclerosing epithelioid fibrosarcoma, this malignancy may affect many organ systems, warranting extensive investigation. Through our diagnostic workup, we suggest a possible link between sclerosing epithelioid fibrosarcoma and the WRN gene. Further study is needed to advance our understanding of sclerosing epithelioid fibrosarcoma and its clinical associations as it is an exceedingly rare diagnosis.

Disseminated Histoplasmosis in a Patient With Acquired Immunodeficiency Syndrome in a Non-Endemic Region (California).

Histoplasmosis is caused by infection with Histoplasma capsulatum (H. capsulatum). Progressive disseminated histoplasmosis is a more severe form of histoplasmosis and is seldom diagnosed in non-endemic regions of the world owing to the fungus's geographical distribution. In the United States (USA), Histoplasma capsulatum is classically known to be endemic to the Mississippi and Ohio River valleys, and cases in non-endemic areas, such as the southwest USA, are exceedingly rare. Patients with acquired immunodeficiency syndrome (AIDS) are at risk for infection with H. capsulatum, and failure to recognize and treat histoplasmosis may be devastating to patients. In non-endemic regions, the proposed mechanism for disseminated histoplasmosis in AIDS patients is reactivation of a previous infection. Here, we present the case of a young male patient who presented to a southern California hospital with diarrhea, was diagnosed with AIDS, and developed acute hypoxic respiratory failure. Chest imaging revealed diffuse reticulonodular opacities, and histoplasmosis was confirmed by urine and serologic examination. He was subsequently treated with liposomal amphotericin B and safely discharged from the hospital with oral itraconazole therapy. This case contributes to the current limited body of literature citing histoplasmosis infections in California, and clinicians should consider histoplasmosis as a differential diagnosis in non-endemic regions.

Hemophagocytic Lymphohistiocytosis Caused by a Severe Epstein-Barr Virus Infection in a Young Patient Presenting With Hiccups.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by a pathologic immune response in the setting of infection, malignancy, acute illness, or any immunological stimulus. Infection is the most common etiology of HLH. HLH involves aberrant activation of lymphocytes and macrophages with resultant hypercytokinemia due to an inappropriately stimulated and ineffective immune response. Here, we present the case of a previously healthy 19-year-old male presenting with hiccups and scleral icterus, who was found to have HLH due to a severe Epstein-Barr virus infection. Despite a morphologically normal bone marrow biopsy, the patient met the diagnostic criteria for HLH, including a low natural killer cell count and elevated soluble interleukin-2 receptor. Notably, ferritin was severely elevated at 85,810 ng/mL. The patient was treated with an induction course of dexamethasone intravenously for eight weeks. Since HLH can progress into multi-organ failure, timely diagnosis and prompt initiation of treatment are critical. Novel disease-modifying therapies and further clinical trials are warranted to treat this potentially fatal immunological disease with multisystem ramifications.

Incidental Moyamoya Disease in an Elderly Patient Presenting With Acute Ischemic Pontine Stroke.

Moyamoya disease (MMD) is a rare occlusive cerebrovascular disease that is characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches with compensatory development of dilated and fragile collateral vasculature at the base of the brain. MMD has a bimodal age distribution commonly affecting children and adults, whereas onset in the elderly population is a rare occurrence. Here, we present a case of a 78-year-old patient of Indonesian descent who was incidentally found to have moyamoya arteriopathy after presenting with acute ischemic stroke in the left pons. The patient underwent diagnostic cerebral angiogram that showed right middle cerebral artery stenosis with pathognomonic collateral moyamoya vessels. The patient was discharged on antiplatelet therapy. We report a rare case of an elderly patient with MMD. The role of medical or surgical management in asymptomatic MMD in elderly patients remains largely unknown.

Correlation Between HbA1c Levels and Mortality Rates in Hospitalized COVID-19 Patients.

Objective Throughout the coronavirus disease 2019 (COVID-19) pandemic, multiple factors have been associated with poor prognosis for those infected by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Age, obesity, and medical comorbidities have been linked to poor outcomes, including admission to the intensive care unit (ICU), acute renal failure, stroke, myocardial infarction (MI), mechanical ventilation, and even death for hospitalized COVID-19 patients. Although diabetes mellitus (DM) has also been included in this set of medical comorbidities, there have been inconsistencies in the currently available body of literature, suggesting that mortality rates may or may not be correlated to elevated glycosylated hemoglobin (HbA1c) levels. This study aims to determine whether there is a correlation or trend between a range of HbA1c values and in-hospital mortality among patients admitted to the hospital with a COVID-19 diagnosis. Materials and methods This study was a retrospective review of electronic medical records at Arrowhead Regional Medical Center in Colton, CA. Any patient above the age of 18 admitted to the hospital during a predetermined time frame, with either a positive COVID-19 PCR test on admission or during their hospital stay, was included in the study. These medical charts were reviewed for HbA1c values during admission or within three months prior to admission. In-hospital mortality was then recorded for each medical record with an available HbA1c value. Hospital discharge summaries were used to delineate comorbidities, including chronic kidney disease, cerebrovascular disease, coronary artery disease, congestive heart failure, cancer history, or history of deep vein thrombosis/pulmonary embolism among the patients included in the study. Average HbA1c values were recorded for the mortality and non-mortality groups, and their statistical significance was calculated. Results In this retrospective study, HbA1c levels were compared to mortality rates among adult patients admitted to the hospital with a concurrent COVID-19 diagnosis. From the analysis conducted, those with higher HbA1c levels did not have an increased rate of in-hospital mortality, and those with lower HbA1c levels did not have a decreased rate of in-hospital mortality. Comorbidity data as a confounding factor was also reviewed and excluded from the final analysis. The SARS-CoV-2 vaccine was also excluded as a confounder in this study by selecting a specific time frame for data collection. Based on our results, we propose that HbA1c levels likely have little to minimal correlation with mortality rates among hospitalized COVID-19 patients. Conclusion In this study, we show that HbA1c levels, regardless of concurrent comorbidities, are unlikely to be correlated to mortality rates among hospitalized COVID-19 patients. HbA1c levels should not be used as a marker for whether these patients should be admitted to the hospital for further inpatient management or discharged from the emergency department.

A Rare Presentation of Severe Organophosphate Poisoning: A Case Report and Review of Literature.

Organophosphates are chemicals commonly used as pesticides and work to inhibit acetylcholinesterase, leading to acetylcholine build up at muscarinic and nicotinic receptors throughout the body. Poisonings are often seen as small volume, chronic cases due to agricultural exposures, but can present as suicide attempts via organophosphate ingestion. Organophosphate poisonings, particularly when large volumes are ingested, require rapid and robust initiation of treatment. We present a case highlighting the appropriate management of profound organophosphate toxicity. We present a case of a 40-year-old female brought in by ambulance after purposefully ingesting two bottles of 100mL dichlorvos (DDVP), one of the largest volume organophosphate ingestions documented in the literature. She presented with severe salivation, diaphoresis and encephalopathy and was then intubated, requiring mechanical ventilation. She received multiple days of intensive care as she was treated with atropine, pralidoxime, intravenous fluids and vasopressors.

Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases.

Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner's syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients. Supernumerary teeth can be present in any region of the oral cavity. Although the occurrence of maxillary para-premolars is rare, radio-logical investigations play a major and decisive role in determining the management of such cases.